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Q8NBL1

- PGLT1_HUMAN

UniProt

Q8NBL1 - PGLT1_HUMAN

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Protein

Protein O-glucosyltransferase 1

Gene

POGLUT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Dual specificity glycosyltransferase. Catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to EGF repeats, such as those found in F7, F9 and NOTCH2, on the consensus sequence C-X-S-X-P-C. Positively regulates Notch signaling without affecting Notch ligand binding.3 Publications

Catalytic activityi

Transfers a beta-D-xylosyl residue from UDP-D-xylose to the serine hydroxy group of an acceptor protein substrate.

Kineticsi

  1. KM=72 µM for UDP-Glc1 Publication

Vmax=7.6 pmol/min/µg enzyme1 Publication

Pathwayi

GO - Molecular functioni

  1. glucosyltransferase activity Source: MGI
  2. protein xylosyltransferase activity Source: UniProtKB-EC
  3. UDP-glucosyltransferase activity Source: UniProtKB

GO - Biological processi

  1. cardiovascular system development Source: Ensembl
  2. Notch signaling pathway Source: Reactome
  3. protein O-linked glycosylation Source: MGI
  4. regulation of Notch signaling pathway Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

ReactomeiREACT_118722. Pre-NOTCH Processing in the Endoplasmic Reticulum.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT90. Glycosyltransferase Family 90.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein O-glucosyltransferase 1 (EC:2.4.1.-)
Alternative name(s):
CAP10-like 46 kDa protein
Short name:
hCLP46
KTEL motif-containing protein 1
Myelodysplastic syndromes relative protein
O-glucosyltransferase Rumi homolog
Short name:
hRumi
Protein O-xylosyltransferase (EC:2.4.2.26)
Gene namesi
Name:POGLUT1
Synonyms:C3orf9, CLP46, KTELC1, MDSRP
ORF Names:MDS010, UNQ490/PRO1006
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:22954. POGLUT1.

Subcellular locationi

Endoplasmic reticulum lumen 2 Publications

GO - Cellular componenti

  1. endoplasmic reticulum lumen Source: UniProtKB
  2. extracellular vesicular exosome Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Dowling-Degos disease 4 (DDD4) [MIM:615696]: A form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi169 – 1691G → E: Loss of O-glucosyltransferase activity. 1 Publication

Organism-specific databases

MIMi615696. phenotype.
Orphaneti79145. Dowling-Degos disease.
PharmGKBiPA162393771.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 23231 PublicationAdd
BLAST
Chaini24 – 392369Protein O-glucosyltransferase 1PRO_0000246685Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi40 – 401N-linked (GlcNAc...)Sequence Analysis
Glycosylationi53 – 531N-linked (GlcNAc...)Sequence Analysis
Glycosylationi204 – 2041N-linked (GlcNAc...)Sequence Analysis
Glycosylationi373 – 3731N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ8NBL1.
PaxDbiQ8NBL1.
PRIDEiQ8NBL1.

PTM databases

PhosphoSiteiQ8NBL1.

Expressioni

Tissue specificityi

Expressed in most adult tissues at different intensities. Abundantly expressed in liver. Expressed also in brain, heart, skeletal muscle, spleen, kidney, placenta, lung and peripheral blood leukocyte. Not detectable in colon, thymus and small intestine. Expressed in the epidermis, especially in the upper parts, stratum spinosum and stratum granulosum (at protein level).2 Publications

Gene expression databases

BgeeiQ8NBL1.
CleanExiHS_KTELC1.
ExpressionAtlasiQ8NBL1. baseline and differential.
GenevestigatoriQ8NBL1.

Organism-specific databases

HPAiHPA037855.

Interactioni

Protein-protein interaction databases

BioGridi121300. 18 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ8NBL1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi389 – 3924Endoplasmic reticulum retention signalBy similarity

Sequence similaritiesi

Belongs to the glycosyltransferase 90 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG248922.
GeneTreeiENSGT00530000063132.
HOVERGENiHBG069044.
InParanoidiQ8NBL1.
KOiK13667.
OMAiWEEREPY.
OrthoDBiEOG7R831J.
PhylomeDBiQ8NBL1.
TreeFamiTF323280.

Family and domain databases

InterProiIPR006598. LipoPS_modifying.
[Graphical view]
PfamiPF05686. Glyco_transf_90. 1 hit.
[Graphical view]
SMARTiSM00672. CAP10. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q8NBL1-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MEWWASSPLR LWLLLFLLPS AQGRQKESGS KWKVFIDQIN RSLENYEPCS
60 70 80 90 100
SQNCSCYHGV IEEDLTPFRG GISRKMMAEV VRRKLGTHYQ ITKNRLYREN
110 120 130 140 150
DCMFPSRCSG VEHFILEVIG RLPDMEMVIN VRDYPQVPKW MEPAIPVFSF
160 170 180 190 200
SKTSEYHDIM YPAWTFWEGG PAVWPIYPTG LGRWDLFRED LVRSAAQWPW
210 220 230 240 250
KKKNSTAYFR GSRTSPERDP LILLSRKNPK LVDAEYTKNQ AWKSMKDTLG
260 270 280 290 300
KPAAKDVHLV DHCKYKYLFN FRGVAASFRF KHLFLCGSLV FHVGDEWLEF
310 320 330 340 350
FYPQLKPWVH YIPVKTDLSN VQELLQFVKA NDDVAQEIAE RGSQFIRNHL
360 370 380 390
QMDDITCYWE NLLSEYSKFL SYNVTRRKGY DQIIPKMLKT EL
Length:392
Mass (Da):46,189
Last modified:October 1, 2002 - v1
Checksum:i25B0370757A6B224
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti287 – 2871G → D in BAD96657. 1 PublicationCurated
Sequence conflicti371 – 3711S → P in BAD96657. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti75 – 751K → R.1 Publication
Corresponds to variant rs11556605 [ dbSNP | Ensembl ].
VAR_027041
Natural varianti229 – 2291P → T.1 Publication
Corresponds to variant rs17852785 [ dbSNP | Ensembl ].
VAR_027042

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY298903 mRNA. Translation: AAP56253.1.
AY358581 mRNA. Translation: AAQ88944.1.
AK075444 mRNA. Translation: BAC11625.1.
AK222937 mRNA. Translation: BAD96657.1.
AK315367 mRNA. Translation: BAG37760.1.
AC074271 Genomic DNA. No translation available.
AC073352 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW79570.1.
BC030614 mRNA. Translation: AAH30614.1.
BC048810 mRNA. Translation: AAH48810.1.
CCDSiCCDS2988.1.
RefSeqiNP_689518.1. NM_152305.2.
UniGeneiHs.231750.

Genome annotation databases

EnsembliENST00000295588; ENSP00000295588; ENSG00000163389.
GeneIDi56983.
KEGGihsa:56983.
UCSCiuc003ecm.3. human.

Polymorphism databases

DMDMi74730148.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY298903 mRNA. Translation: AAP56253.1 .
AY358581 mRNA. Translation: AAQ88944.1 .
AK075444 mRNA. Translation: BAC11625.1 .
AK222937 mRNA. Translation: BAD96657.1 .
AK315367 mRNA. Translation: BAG37760.1 .
AC074271 Genomic DNA. No translation available.
AC073352 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW79570.1 .
BC030614 mRNA. Translation: AAH30614.1 .
BC048810 mRNA. Translation: AAH48810.1 .
CCDSi CCDS2988.1.
RefSeqi NP_689518.1. NM_152305.2.
UniGenei Hs.231750.

3D structure databases

ProteinModelPortali Q8NBL1.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121300. 18 interactions.

Protein family/group databases

CAZyi GT90. Glycosyltransferase Family 90.

PTM databases

PhosphoSitei Q8NBL1.

Polymorphism databases

DMDMi 74730148.

Proteomic databases

MaxQBi Q8NBL1.
PaxDbi Q8NBL1.
PRIDEi Q8NBL1.

Protocols and materials databases

DNASUi 56983.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000295588 ; ENSP00000295588 ; ENSG00000163389 .
GeneIDi 56983.
KEGGi hsa:56983.
UCSCi uc003ecm.3. human.

Organism-specific databases

CTDi 56983.
GeneCardsi GC03P119188.
HGNCi HGNC:22954. POGLUT1.
HPAi HPA037855.
MIMi 615618. gene.
615696. phenotype.
neXtProti NX_Q8NBL1.
Orphaneti 79145. Dowling-Degos disease.
PharmGKBi PA162393771.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG248922.
GeneTreei ENSGT00530000063132.
HOVERGENi HBG069044.
InParanoidi Q8NBL1.
KOi K13667.
OMAi WEEREPY.
OrthoDBi EOG7R831J.
PhylomeDBi Q8NBL1.
TreeFami TF323280.

Enzyme and pathway databases

UniPathwayi UPA00378 .
Reactomei REACT_118722. Pre-NOTCH Processing in the Endoplasmic Reticulum.

Miscellaneous databases

GenomeRNAii 56983.
NextBioi 62657.
PROi Q8NBL1.
SOURCEi Search...

Gene expression databases

Bgeei Q8NBL1.
CleanExi HS_KTELC1.
ExpressionAtlasi Q8NBL1. baseline and differential.
Genevestigatori Q8NBL1.

Family and domain databases

InterProi IPR006598. LipoPS_modifying.
[Graphical view ]
Pfami PF05686. Glyco_transf_90. 1 hit.
[Graphical view ]
SMARTi SM00672. CAP10. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning, expression and characterization of a novel human CAP10-like gene hCLP46 from CD34+ stem/progenitor cells."
    Teng Y., Liu Q., Ma J., Liu F., Han Z., Wang Y., Wang W.
    Gene 371:7-15(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    Tissue: Hematopoietic stem cell.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
    Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
    , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
    DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Placenta.
  5. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  6. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ARG-75 AND THR-229.
    Tissue: Fetal brain and Hypothalamus.
  9. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
    Zhang Z., Henzel W.J.
    Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 24-38.
  10. "Regulation of mammalian Notch signaling and embryonic development by the protein O-glucosyltransferase Rumi."
    Fernandez-Valdivia R., Takeuchi H., Samarghandi A., Lopez M., Leonardi J., Haltiwanger R.S., Jafar-Nejad H.
    Development 138:1925-1934(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, MUTAGENESIS OF GLY-169.
  11. "Universal phosphatase-coupled glycosyltransferase assay."
    Wu Z.L., Ethen C.M., Prather B., Machacek M., Jiang W.
    Glycobiology 21:727-733(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES.
  12. Cited for: FUNCTION.
  13. Cited for: INVOLVEMENT IN DDD4, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

Entry informationi

Entry nameiPGLT1_HUMAN
AccessioniPrimary (citable) accession number: Q8NBL1
Secondary accession number(s): B2RD13, Q53GJ4, Q8N2T1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: October 1, 2002
Last modified: October 29, 2014
This is version 110 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3